Canonical Allele Identifier: CA666044515

Gene: ERCC6

Linked Data

• dbSNP Id: rs1393654321
• gnomAD v4: 10-49500513-TGACA-T
• MyVariant Identifiers: chr10:g.50708560_50708563del (hg19) ; chr10:g.49500514_49500517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500515_49500518del , CM000672.2:g.49500515_49500518del	GRCh38
NC_000010.10:g.50708561_50708564del , CM000672.1:g.50708561_50708564del	GRCh37
NC_000010.9:g.50378567_50378570del	NCBI36
NG_009442.1:g.43585_43588del , LRG_465:g.43585_43588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+21_1685+24del MANE Select	ENSP00000348089.5:n.1685+21_1685+24del
ENST00000681632.1:n.1763+21_1763+24del
ENST00000681659.1:c.1526+5367_1526+5370del	ENSP00000505631.1:n.1526+5367_1526+5370del
ENST00000355832.9:c.1685+21_1685+24del	ENSP00000348089.5:n.1685+21_1685+24del
ENST00000475116.1:n.275+21_275+24del
ENST00000623073.3:c.86+21_86+24del	ENSP00000485650.1:n.86+21_86+24del
ENST00000623115.3:c.-70+21_-70+24del	ENSP00000485321.1:n.-70+21_-70+24del
ENST00000623318.1:c.86+21_86+24del	ENSP00000485423.1:n.86+21_86+24del
NM_000124.3:c.1685+21_1685+24del	NP_000115.1:n.1685+21_1685+24del
NM_001346440.1:c.1685+21_1685+24del	NP_001333369.1:n.1685+21_1685+24del
NM_000124.4:c.1685+21_1685+24del MANE Select	NP_000115.1:n.1685+21_1685+24del
NM_001346440.2:c.1685+21_1685+24del	NP_001333369.1:n.1685+21_1685+24del